mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance

Preferred Label : mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance;

Origin ID

C537456;

UMLS CUI

C1845366;

Automatic exact mappings (from CISMeF team)
- Intellectual developmental disorder, X-linked, syndromic, billuart type [OMIM Phenotype]
- X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance [DO Concept]
Has phenotype(s) (HPO)
- Speech delay [HPO term]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
Record concept(s)
- mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, X-linked, syndromic, billuart type [OMIM Phenotype]
- X-linked intellectual disability-cerebellar hypoplasia syndrome [ORDO Disease]